Abstract:Nowadays, health funding decisions must be supported by sound arguments in terms of both effectiveness and economic criteria. After more than half a century of newborn screening for rare diseases, the appropriate economic evaluation framework for these interventions is still challenging. The validity of standard methods for economic evaluation heavily relies on the availability of robust evidence, but collection of such evidence is precluded by the rareness of the conditions that may benefit from screening. Fu… Show more
“…Therefore, we started the screening in 2015, and currently our false positive rate with a cut-off of 35% of normal mean was lower than 0.03%. There are several economic evaluation methods that can be applied to newborn screening programs [31]. Vallejo-Torres et al found that newborn screening for biotinidase deficiency led to higher quality quality-adjusted life years, and the probability that biotinidase deficiency screening was cost-effective was estimated to be > 70% [32].…”
Biotinidase deficiency is an autosomal recessive disorder that affects the endogenous recycling and release of biotin from dietary protein. This disease was thought to be rare in East Asia. In this report, we delineate the phenotype of biotinidase deficiency in our cohort. The genotypes and phenotypes of patients diagnosed with biotinidase deficiency from a medical center were reviewed. The clinical manifestations, laboratory findings, and molecular test results were retrospectively analyzed. A total of 6 patients were evaluated. Three patients (50%) were diagnosed because of a clinical illness, and the other three (50%) were identified by newborn screening. In all patients, the molecular results confirmed the BTD mutation. The three patients with clinical manifestations had an onset of seizure at the age of 2 to 3 months. Two patients had respiratory problems (one with apnea under bilevel positive airway pressure (BiPAP) therapy at night, and the other with laryngomalacia). Hearing loss and eye problems were found in one patient. Interestingly, cutaneous manifestations including skin eczema, alopecia, and recurrent fungal infection were less commonly seen compared to cases in the literature. None of the patients identified by the newborn screening program developed symptoms. Our findings highlight differences in the genotype and phenotype compared with those in Western countries. Patients with biotinidase deficiency benefit from newborn screening programs for early detection and management.
“…Therefore, we started the screening in 2015, and currently our false positive rate with a cut-off of 35% of normal mean was lower than 0.03%. There are several economic evaluation methods that can be applied to newborn screening programs [31]. Vallejo-Torres et al found that newborn screening for biotinidase deficiency led to higher quality quality-adjusted life years, and the probability that biotinidase deficiency screening was cost-effective was estimated to be > 70% [32].…”
Biotinidase deficiency is an autosomal recessive disorder that affects the endogenous recycling and release of biotin from dietary protein. This disease was thought to be rare in East Asia. In this report, we delineate the phenotype of biotinidase deficiency in our cohort. The genotypes and phenotypes of patients diagnosed with biotinidase deficiency from a medical center were reviewed. The clinical manifestations, laboratory findings, and molecular test results were retrospectively analyzed. A total of 6 patients were evaluated. Three patients (50%) were diagnosed because of a clinical illness, and the other three (50%) were identified by newborn screening. In all patients, the molecular results confirmed the BTD mutation. The three patients with clinical manifestations had an onset of seizure at the age of 2 to 3 months. Two patients had respiratory problems (one with apnea under bilevel positive airway pressure (BiPAP) therapy at night, and the other with laryngomalacia). Hearing loss and eye problems were found in one patient. Interestingly, cutaneous manifestations including skin eczema, alopecia, and recurrent fungal infection were less commonly seen compared to cases in the literature. None of the patients identified by the newborn screening program developed symptoms. Our findings highlight differences in the genotype and phenotype compared with those in Western countries. Patients with biotinidase deficiency benefit from newborn screening programs for early detection and management.
“…Despite the wide international consensus on the efficiency of NBS for phenylketonuria in terms of costs and effectiveness, this consensus is challenged as new disorders are proposed to be included in a NBS program (93). NBS programs might be relatively inexpensive, even when the confirmatory diagnostic tests for both the true and false positives and the follow-up and treatment costs of affected children are included.…”
Section: Newborn Screeningmentioning
confidence: 99%
“…Reorganization, grouping, and renaming of registries is common. Other 33 , (76-84) 34,35,36,37,38,39,40,41,42,43,44,45,46,47 , (67, 85, 86) 1,48 , (87) 2,3 , (88, 89) 4,5 , (90, 91) 6,7,8,9 , (92,93).…”
Section: Disease Registries National Plans For Rare Diseasesmentioning
Background: Despite international initiatives on collaboration within the field of rare diseases, patient access to orphan medicinal products (OMPs) and healthcare services differ greatly between countries. This study aimed to create a comprehensive and in-depth overview of rare diseases policies and reimbursement of OMPs in a selection of 12 countries in the Western Eurasian region: Armenia,
“…Many of these had clear benefits from screening, as early diagnosis before the onset of symptoms enabled therapeutic intervention, improving health outcomes for infants [10]. However, some of these conditions are opportunistically screened, and perhaps would not be possible to justify a specific screening program based on health economic impact [14].…”
Early diagnosis of inborn errors of metabolism (IEM)—a large group of congenital disorders—is critical, given that many respond well to targeted therapy. Newborn screening programs successfully capture a proportion of patients enabling early recognition and prompt initiation of therapy. For others, the heterogeneity in clinical presentation often confuses diagnosis with more common conditions. In the absence of family history and following clinical suspicion, the laboratory diagnosis typically begins with broad screening tests to circumscribe specialised metabolite and/or enzyme assays to identify the specific IEM. Confirmation of the biochemical diagnosis is usually achieved by identifying pathogenic genetic variants that will also enable cascade testing for family members. Unsurprisingly, this diagnostic trajectory is too often a protracted and lengthy process resulting in delays in diagnosis and, importantly, therapeutic intervention for these rare conditions is also postponed. Implementation of mass spectrometry technologies coupled with the expanding field of metabolomics is changing the landscape of diagnosing IEM as numerous metabolites, as well as enzymes, can now be measured collectively on a single mass spectrometry-based platform. As the biochemical consequences of impaired metabolism continue to be elucidated, the measurement of secondary metabolites common across groups of IEM will facilitate algorithms to further increase the efficiency of diagnosis.
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